Variant Details

Variant: essv4515622

Internal ID

7101254

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:103985729..103986999	hg38	UCSC Ensembl
Outer	chr12:103985621..103987126	hg38	UCSC Ensembl
Inner	chr12:104379507..104380777	hg19	UCSC Ensembl
Outer	chr12:104379399..104380904	hg19	UCSC Ensembl
Inner	chr12:102903637..102904907	hg18	UCSC Ensembl
Outer	chr12:102903529..102905034	hg18	UCSC Ensembl

Cytoband

12q23.3

Allele length

Assembly	Allele length
hg38	1506
hg19	1506
hg18	1506

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2341266

Supporting Variants

Samples

NA18507

Known Genes

TDG

Method

Sequencing

Analysis

Hierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.

Platform

Not specified

Comments

Reference

Bentley_et_al_2008

Pubmed ID

18987734

Accession Number(s)

essv4515622

Frequency

Sample Size	1
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a